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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 2_---_---_--- | c.IVS1+9C>G (c.211+9C>G) c.IVS6-80G>A (c.1077-80G>A) c.IVS6-80G>A (c.1077-80G>A) c.IVS9+111T>C (c.1510+111T>C) c.IVS9+111T>C (c.1510+111T>C) c.IVS9+115A>G (c.1510+115A>G) c.IVS9+115A>G (c.1510+115A>G) c.IVS9+118T>C (c.1510+118T>C) c.IVS9+118T>C (c.1510+118T>C) c.IVS9-91G>T (c.1511-91G>T) c.IVS9-91G>T (c.1511-91G>T) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS10+12G>A (c.1661+12G>A) c.IVS11+107A>G (c.1759+107A>G) c.IVS11+107A>G (c.1759+107A>G) c.IVS11+183G>A (c.1759+183G>A) c.IVS11+183G>A (c.1759+183G>A) c.IVS11-62G>A (c.1760-62G>A) | c.IVS3-29C>A (c.307-29C>A) c.IVS5+79A>G (c.453+79A>G) c.IVS5-51T>C (c.454-51T>C) c.655A>G (p.Ile219Val) | c.IVS4-101G>C (c.3173-101G>C) c.IVS7+91T>C (c.3646+91T>C) c.IVS8+54C>G (c.3801+54C>G) | - | - |
| 2_02-DDM2744_18675_18675 | c.IVS1+9C>G (c.211+9C>G) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Allele frequency | rs3815865 : 44% heterozygotes, 34% homozygotes CC (PDR90 population) | 28/02/12 | dbSNP | |
| Co-occurrence | MSH2 : mutation on MSH2 Causal (patient A) | 27/09/06 | 2 (Villejuif) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 6/02/07 | --- |